Glossary

Adrenal glands: Two glands, one located above each kidney, that secrete hormones to prevent inflammation and to help regulate blood pressure, blood sugar levels, and metabolism.

Adrenocortical carcinoma: malignant tumor involving the cortex (outer layer) of the adrenal gland. While most tumors of the adrenal cortex are benign (adenomas), the malignant form makes up about 3% of all cortical tumors and requires surgery and sometimes chemotherapy

Aneurysm: A localized, pathological, blood-filled dilatation of a blood vessel caused by a disease or weakening of the vessel's wall

Autosomal Dominant: describes a trait or disorder in which the condition is expressed in those who have inherited one copy of a particular gene mutation; individuals with an autosomal dominant condition have a 50% chance to pass the condition to each offspring

Autosomal Recessive: describes a trait or disorder in which the condition is expressed in those who have inherited gene mutations in both copies of a particular gene; individuals who inherit a gene mutation in one copy of a gene are considered to be carriers of the condition

Bilateral: Having, or involving, two (or both) sides

Carcinoma: A malignant tumor that begins in the lining layer (epithelial cells) of organs: for example, breast, prostate, lung, stomach or bowel

Cardiomyopathy: disease of the heart muscle

CAT (computed axial tomography) Scan: imaging anatomical information from a cross-sectional plane of the body, each image is generated by a computer synthesis of x-ray transmission data obtained in many different directions in a given plane

Cerebral (Cerebrum): largest portion of the brain, involved with thinking and memory

Cerebellum: portion of the brain responsible for the coordination of movement and balance

Chromosome: physical structure consisting of DNA, the genetic material making up genes, and supporting proteins. Human cells normally contain 46 chromosomes identified as 23 pairs; 22 pairs are autosomes and one pair are the sex chromosomes

de novo mutation: a new gene mutation; an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself

DNA (deoxyribonucleic acid): a complex chemical that acts as the primary genetic material and is found in the chromosomes of almost all organisms

DNA banking: DNA storage, the process through which DNA is extracted from any of a number of possible cell sources and stored indefinitely by freezing or refrigerating for future testing

Ductal Carcinoma in Situ: Cancer cells that start in the milk passages (ducts) but have not penetrated the duct walls into the surrounding tissue. This is a highly curable form of breast cancer that is treated with surgery or surgery plus radiation therapy.

First-degree relatives: biological parents, full siblings, offspring

Gene: the basic unit of heredity, consisting of a segment of DNA arranged in a linear manner along a chromosome, which codes for a specific protein or segment of protein leading to a particular characteristic or function

Genetic Counseling: a process, involving an individual or family, comprising: evaluation to confirm, diagnose, or exclude a genetic condition, malformation syndrome, or isolated birth defect; discussion of natural history and the role of heredity; identification of medical management issues; calculation and communication of genetic risks; provision of or referral for psychosocial support

Genetic Counselor: a health care professional who practices genetic counseling

Genetic Testing: DNA testing; testing that involves the analysis of DNA, typically from a blood sample, either through sequencing, or one of several methods of mutation detection

Hereditary (Heredity): the transmission of characteristics from one generation to another via a mechanism involving genes and chromosomes

High-Density Lipoproteins (HDLs): carrier of cholesterol back to the liver; also known as "good" cholesterol

Hypertrophy: overgrowth

Infarct: an area of cell damage resulting from a sudden insufficiency of arterial or venous blood supply

Keratoacanthoma: A benign (noncancerous), rapidly growing skin tumor that usually occurs on sun-exposed areas of the skin and that can go away without treatment, often leaving a scar

Leukoencephalopathy: disease of the brain’s white matter

Low-Density Lipoproteins (LDLs): main carrier of cholesterol in the blood; also known as "bad" cholesterol

Mastectomy: surgical removal of the breast

Medical Geneticist: a physician that specializes in the area of genetic diseases

Medullary breast cancer: A rare type of breast cancer that often can be treated successfully. It is marked by lymphocytes (a type of white blood cell) in and around the tumor that can be seen when viewed under a microscope

Medullary thyroid cancer: the third most common of all thyroid cancers (about 5 to 8 percent). Unlike papillary and follicular thyroid cancers which arise from thyroid hormone producing cells, medullary cancer of the thyroid originates from the parafollicular cells (also called C cells) of the thyroid.

MRI (magnetic resonance imaging): a diagnostic radiological tool in which a cell's molecules are aligned in a strong uniform magnetic field and are converted into a set of images

Mutation: any alteration of a gene from its natural state; may be disease causing or a benign, normal variant

Neurotransmitter: a chemical substance that functions to send signals from one cell to another cell

Pancreatitis: An inflammation of the pancreas that may cause intense, persistent pain in the upper abdomen. Symptoms may include nausea, constipation, and jaundice.

Paraganglioma: a rare, usually benign tumor that develops from cells of the paraganglia. Paraganglia are a collection of cells that came from embryonic nervous tissue, and are found near the adrenal glands and some blood vessels and nerves.

Pathology: the study of the structural and functional changes caused by disease

Penetrance: the proportion of individuals with a mutation causing a particular disorder who exhibit clinical symptoms of that disorder; a condition (most commonly inherited in an autosomal dominant manner) is said to have complete penetrance if clinical symptoms are present in all individuals who have the disease-causing mutation, and to have reduced or incomplete penetrance if clinical symptoms are not always present in individuals who have the disease-causing mutation

Pheochromocytoma: tumor of the adrenal gland. Pheochromocytomas are usually benign (noncancerous), but can cause dangerously high blood pressure and other symptoms, including pounding headaches, heart palpitations, flushing of the face, nausea, and vomiting.

Preconception: before conception

Prenatal: before birth

Primary peritoneal cancer: A cancer that arises in the peritoneum (lining of the abdominal cavity) and is very similar to epithelial ovarian cancer in terms of microscopic appearance, symptoms, pattern of spread, treatment, and prognosis

Sarcoma: a tumor, typically highly malignant, of the connective tissue

Sebaceous adenoma: a rare but benign tumor of cells of the sweat glands

Sebaceous carcinoma: malignant tumor arising from a sweat (sebaceous) gland. The face and scalp are the commonest sites

Sensitivity: in medical screening, the proportion of individuals with a positive (indication of disease) screening result who actually have the disease. For example, for women who have mammograms, the sensitivity would be the number of women with a positive mammogram who actually have breast cancer.

Sensorineural Deafness: hearing loss resulting from a malformation of one of the inner ear components

Sickle cell anemia: an autosomal recessive condition which causes red blood cells to be become malformed in shape or “sickle-shaped” due to abnormal hemoglobin structure.

Somatic: non-inherited; also refers to all of the cells in the body except the reproductive cells (e.g. sperm and eggs)

Specificity: in medical screening, the proportion of individuals with a negative (no indication of disease) screening result for a disease who actually do not have the disease. For example, for women who have mammograms, the specificity would be the number of women with a negative mammogram who actually do not have breast cancer.

Subcortical: beneath the cerebral cortex in the brain

Tay-Sachs Disease: is caused by a deficiency of the a cell chemical called hexoaminidase A. A harmful substance then builds up in the brain causing deterioration in both mental and physical abilities. Death typically occurs by 5 years of age. A less common form affects adults rather than children.

Thalassemia: an autosomal recessive condition caused by abnormal hemoglobin which leads to defective transportation of oxygen in the blood

Triglycerides: fats

X-Linked Recessive: a mode of inheritance in which a mutation in a gene on the X chromosome causes the condition to be expressed in males who inherit the gene mutation and in females who inherit the gene mutation on each of their two X chromosomes. Carrier females who have only one copy of the mutation do not usually express the condition.